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rs587784270

From SNPedia

Orientationplus
Geno Mag Summary
(TAAAC;TAAAC) 0 common in clinvar
Make rs587784270(-;-)
Make rs587784270(-;AACTA)
Make rs587784270(AACTA;AACTA)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2670287
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784270
ebirs587784270
HLIrs587784270
Exacrs587784270
Varsomers587784270
Maprs587784270
PheGenIrs587784270
hapmaprs587784270
1000 genomesrs587784270
hgdprs587784270
ensemblrs587784270
gopubmedrs587784270
geneviewrs587784270
scholarrs587784270
googlers587784270
pharmgkbrs587784270
gwascentralrs587784270
openSNPrs587784270
23andMers587784270
23andMe allrs587784270
SNP Nexus

SNPshotrs587784270
SNPdbers587784270
MSV3drs587784270
GWAS Ctlgrs587784270
Max Magnitude0
ClinVar
Risk rs587784270(;)
Alt rs587784270(;)
Reference rs587784270(TAAAC;TAAAC)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2573581_2573585delAACTA
CLNSRC
CLNACC RCV000147042.1,